PGS Publication: PGP000401

Publication Information (EuropePMC)
Title Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
PubMed ID 36300346(Europe PMC)
doi 10.1001/jamaneurol.2022.3832
Publication Date Oct. 27, 2022
Journal JAMA Neurol
Author(s) Cho BPH, Harshfield EL, Al-Thani M, Tozer DJ, Bell S, Markus HS.
Released in PGS Catalog: Dec. 6, 2022

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
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Additional Asian Ancestries
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGP000027 |
Abraham G et al. Nat Commun (2019)
Ischemic stroke stroke,
Ischemic stroke

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM016151 PGS000039
Ancestry Not Reported|
454,756 individuals
PGP000401 |
Cho BPH et al. JAMA Neurol (2022)
Reported Trait: Stroke HR: 1.23 [1.2, 1.26] age, sex, ethnicity, exome sequencing batch, and the first 10 principal components of genetic ancestry

Evaluated Samples

PGS Sample Set ID
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS010050 Participants without history of stroke, coronary heart disease, peripheral vascular disease, or congestive heart failure at recruitment 454,756 individuals Not reported UKB